在非洲裔美国人甲状腺癌中推定的致病性细菌系和体质变体
Zachary A Hurst1,2, Sandya Liyanarachchi3, Pamela Brock4
1Division of Gastroenterology, Hepatology and Nutrition, Department of Internal Medicine, The Ohio State University College of Medicine and Comprehensive Cancer Center, Columbus, Ohio, USA.
Thyroid : official journal of the American Thyroid Association
|December 8, 2023
概括
非洲裔美国甲状腺癌患者可能由于医疗保健差异而不是遗传因素而导致更糟糕的结果. 需要对影响癌症风险和心血管事件的遗传变异进行进一步的研究.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 心血管医学 心血管医学
背景情况:
- 与欧洲裔美国人 (EA) 相比,非骨髓性甲状腺癌 (NMTC) 的非洲裔美国人 (AA) 患者的预后往往较差.
- 这种差异可能与获得医疗保健的问题和潜在的遗传变异有关.
- 研究AA NMTC患者的遗传因素对于理解结果差异至关重要.
研究的目的:
- 分析生殖系和体质变异对非裔美国人NMTC患者临床结果的影响.
- 在与癌症有关的和心血管风险基因中识别可能的致病性生殖系或体质变异 (PPGV / PPSV).
- 探索基因变异在癌症进展和治疗反应中的潜在作用.
主要方法:
- 来自37名AA NMTC患者的生殖线DNA (血液/正常组织) 和结对瘤DNA的全外体序列测序.
- 鉴定具有联合注释枯竭依赖 (CADD) 评分≥20和VarSome临床分类可能致病性或致病性的变体.
- 对与癌症相关的基因,心血管风险基因中的PPGVs/PPSVs及其与非洲祖先的关联进行分析.
主要成果:
- 在16个与癌症相关的基因中发现了17个PPGV, *WRN*之前与NMTC有关.
- *BRAF*是最常见的体质变体 (41%的瘤).
- 一名患有 *ERCC4* PPGV 和 *TP53* PPSV 的患者死于 PTC/ATC; *SC5NA*, *GYG1*, *CBS*, *CFTR* 和 *SI* PPGV 在心血管风险基因中被发现.
结论:
- 该队列中的大多数AA-NMTC患者在治疗后取得了良好的结果,这表明医疗保健差异是预后更差的主要驱动因素.
- 可能促进TP53突变或导致心血管事件的PPGVs的临床意义需要进一步调查.
- 对PPGV/PPSV资料的综合分析可以帮助识别需要更密切监测或主动干预的高风险NMTC患者.
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